Year: 2024
Type: article
Abstract: Variants in the gene RNU4-2 were recently described to cause an autosomal dominant intellectual disability (ID) syndrome.1,2 Commonly used genetic testing methods, including gene panels and whole exome sequencing, have historically overlooked RNU4-2 since these primarily analyze protein-coding genes, whereas RNU4-2 encodes an RNA spliceosome component and not a protein. Molecular diagnosis currently requires whole genome sequencing.
Source: Pediatric Neurology
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $3,100
OpenAlex ID: W4405485286